Cataract-growth hormone deficiency-skeletal dysplasia syndrome

Disease Term Disease ID Gene Symbol Classification References Source
CATARACT, GROWTH HORMONE DEFICIENCY, SENSORY NEUROPATHY, SENSORINEURAL HEARING LOSS, SKELETAL DYSPLASIA SYNDROME
C4014942
IARS2 Unknown — Disgenet
CATARACT-GROWTH HORMONE DEFICIENCY-SENSORY NEUROPATHY-SENSORINEURAL HEARING LOSS-SKELETAL DYSPLASIA SYNDROME
436174MONDO:0014455
IARS2 Causal
25130867 28328135 30041933 30419932
ClinVar Disgenet Orphanet
CATARACTS, GROWTH HORMONE DEFICIENCY, SENSORY NEUROPATHY, SENSORINEURAL HEARING LOSS, AND SKELETAL DYSPLASIA
616007OMIM:616007
IARS2 Unknown — CTD HPO